Why Rare Disease Groups Should Do More to Address Psychosocial Issues

A new study from researchers at Oregon State University finds people with rare conditions are a greater risk for health-related quality of life issues. While that may not seem like a headline grabber, it is worthy of note.

In what is believed to be the first large-scale look at adults in the United States with a diagnosed rare disease, the researchers found that people with such conditions face a high risk of experiencing health-related quality of life problems, including increased levels of anxiety, depression, pain, fatigue, and limited ability to participate in society.

The findings, were published this month in Orphanet Journal of Rare Diseases. The paper is part of a larger, multi-part study, the Adults with Rare Disorders Support project, which seeks to assess the psychosocial support needs of people with a variety of rare diseases.

“These findings suggest that the quality of life needs of people with rare diseases are not being met and that more work is needed to provide psychosocial support for this group,” said Kathleen Bogart, an assistant professor of psychology at OSU and lead author of the study. “There is a disparity here and intervention is needed.”

For the study, researchers surveyed more than 1,200 U.S. residents with rare diseases about their disease and their quality of life. The participants ranged across 232 different rare diseases. Some 13 percent of the group had more than one rare disease.

Compared to a representative sample of U.S. residents, people with rare diseases experienced worse anxiety, depression, fatigue, pain, physical functioning worse ability to participate in society than between 70 and 85 percent of the population.

Those with rare diseases also had poorer quality of life than U.S. residents with common chronic conditions, such as heart disease, diabetes, or arthritis, even though the researchers say there is nothing inherent in the pathology of rare diseases that creates a greater challenge of health-related quality of life issues than a common chronic disease

“There is something specific about having a ‘rare’ disease that contributes to poorer quality of life,” she said. “Many people struggle with getting an accurate diagnosis, which also can lead to a constant de-legitimization of their experience, with people wondering if it is ‘all in your head.’”

The researchers are planning to meet with participants from the first phase of the study to take a deeper look at the psychosocial issue and identify interventions that could help people with rare diseases improve their quality of life.

What makes the findings of the quality of life study noteworthy? A few things.

Rare disease patients are often weakened by a natural inclination to think of their own disease in isolation. With an estimated 350 million people worldwide living with a rare disease, the estimated 7,000 conditions, many without an organization that gives them voice or provides support and information, they can often feel alone. This study points to commonalities rare disease patients face from a psychosocial perspective. Despite the varying characteristics of individual diseases, there is a shared experience around the lack of information, the diagnostic odyssey, and their feelings of isolation. The researchers suggest patients can gain benefit from interacting with and supporting each other independent of their specific ailments.

The study also suggests that quality of life issues should be a greater priority for rare disease organizations and funding agencies that support people with rare diseases. While rare disease organizations target important challenges to enable basic research, discover and develop new therapies, educate patients, lobby for research, they say few prioritize issues like psychosocial support.

“As most individuals with [rare diseases] will not be cured in their lifetimes, identifying ways to improve [health-related quality of life] is of utmost importance to patient-centered care.

While it may not be surprising that the psychosocial issues rare disease patients face are greater than those without such conditions, its noteworthy that organizations focused on rare disease issues aren’t do more to address that need.

December 19, 2017